MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

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dc.contributor.authorPervaiz, Muhammad Ali
dc.contributor.authorKendal, Fran
dc.contributor.authorHegde, Madhuri
dc.contributor.authorSingh, Rani H
dc.date.accessioned2012-06-11T06:10:44Z
dc.date.available2012-06-11T06:10:44Z
dc.date.issued2011-01
dc.description.abstractVery long chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the genetic defects of mitochondrial fatty acid beta-oxidation presenting in early infancy or childhood. If undiagnosed and untreated, VLCAD deficiency may be fatal, secondary to cardiac involvement. We assessed the effect of replacing part of the fat in the diet of a 2 ½-month-old male infant, who was diagnosed with VLCAD deficiency,with medium-chain triglyceride (MCT) oil and essential fats. The patient presented with vomiting, dehydration, and was found to have persistent elevation of liver function tests, hepatomegaly, pericardial and pleural effusion, right bundle branch block, and biventricular hypertrophy. Because of the cardiomyopathy, hepatomegaly, and an abnormal acylcarnitine profile and urine organic acids, he was suspected of having VLCAD deficiency. This was confirmed on acyl-coA dehydrogenase, very long chain (ACADVL) gene analysis. He was begun on an MCT oil-based formula with added essential fatty acids, uncooked cornstarch (around 1 year of age), and frequent feeds. By 7 months of age, cardiomyopathy had reversed and by 18 months of age, all cardiac medications were discontinued and hypotonia had improved such that physical therapy was no longer required. At 5 years of age, he is at the 50th percentile for height and weight along with normal development. Pediatricians need to be aware about the basic pathophysiology of the disease and the rationale behind its treatment as more patients are being diagnosed because of expansion of newborn screen. The use of MCT oil as a medical intervention for treatment of VLCAD deficiency remains controversial mostly because of lack of clear phenotype-genotype correlations, secondary to the genetic heterogeneity of the mutations. Our case demonstrated the medical necessity of MCT oil-based nutritional intervention and the need for the further research for the development of specific guidelines to improve the care of these patients.en_US
dc.identifier.citationPervaiz Muhammad Ali, Kendal Fran, Hegde Madhuri, Singh Rani H. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian Journal of Human Genetics. 2011 Jan; 17(1): 29-32.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138929
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144685/en_US
dc.subjectCardiomyopathyen_US
dc.subjectcarnitineen_US
dc.subjectinborn error of metabolismen_US
dc.subjectMCT oilen_US
dc.subjectvery long chain acyl-CoA dehydrogenase deficiencyen_US
dc.subject.meshAcyl-CoA Dehydrogenase, Long-Chain --deficiency
dc.subject.meshAcyl-CoA Dehydrogenase, Long-Chain --genetics
dc.subject.meshCarnitine --chemistry
dc.subject.meshChild
dc.subject.meshCardiomyopathy, Hypertrophic --diet therapy
dc.subject.meshDietary Fats ---administration & dosage
dc.subject.meshDietary Fats --therapeutic use
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshLipid Metabolism, Inborn Errors --genetics
dc.subject.meshMale
dc.subject.meshMetabolism, Inborn Errors
dc.subject.meshTriglycerides --administration & dosage
dc.subject.meshTriglycerides --analogs & derivatives
dc.subject.meshTriglycerides --therapeutic use
dc.titleMCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.en_US
dc.typeArticleen_US
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